Article
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.
Neurologia i neurochirurgia polska - 1 Jan 2020
Lipowska Marta, Drac Hanna, Rowczenio Dorota, Gilbertson Janet, Hawkins Philip N, Lasek-Bal Anetta, Szewczuk Janusz, Grzybowski Jacek, Gawor Monika, Stępień-Wojno Małgorzata, Franaszczyk Maria, Brydak-Godowska Joanna, Śmierciak Renata, Ptasińska-Perkowska Agnieszka, Chandoga Jan, Petrovic Robert, Kostera-Pruszczyk Anna
Abstract excerpt
BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients. METHODS AND PATIENTS: Clinical data and...
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